OSTEOGENESIS IMPERFECTA (AUTOSOMAL RECESSIVE)
Clinical Genetic Test
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GTR Test Accession: Help GTR000557740.1
INHERITED DISEASEDYSMORPHOLOGYMUSCULOSKELETAL ... View more
Last updated in GTR: 2017-09-14
Last annual review date for the lab: 2024-09-06 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic
Osteogenesis imperfecta type 6; Osteogenesis imperfecta type 10; Osteogenesis imperfecta type 11 more...
Genes (9): Help
BMP1 (8p21.3); CRTAP (3p22.3); FKBP10 (17q21.2); P3H1 (1p34.2); PPIB (15q22.31) more...
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Not provided
Not provided
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Ordering Information
Offered by: Help
Laboratorio de Genetica Clinica SL
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Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 9
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 9
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity for this assay is estimated to be >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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